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Poor Vitamin D gene activation that results in rickets etc, (CYP27B1: 1 in 30 people in a region of Quebec) – May 2022

Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

Front Endocrinol (Lausanne). 2022 May 6;13:887371. doi: 10.3389/fendo.2022.887371. eCollection 2022.
Carol-Ann Fortin 1, Lysanne Girard 1, Chloé Bonenfant 1, Josianne Leblanc 2, Tania Cruz-Marino 2, Marie-Eve Blackburn 3, Mathieu Desmeules 4 5, Luigi Bouchard 1 2

Region in Quebec


Background: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SLSJ) region due to a founder effect. Daily intake of calcitriol before the onset of clinical manifestations can prevent them in affected children.

Methods: A genetic screening test was developed and validated for the CYP27B1 gene c.262del pathogenic variant. Newborn screening was implemented in the SLSJ region for this variant, and the feasibility and acceptability were assessed. Sixteen medical records of children affected with VDDR1A were reviewed to document the consequences of the disease at diagnosis.

Results: A total of 2000 newborns were tested for VDDR1A. Most families (96.5%) accepted the genetic test. We found a carrier rate of 1/29 for the c.262delG variant in our cohort, which is suggestive of a founder effect. We identified one child affected with VDDR1A and treatment was initiated before the onset of clinical manifestations. On average, children with VDDR1A were diagnosed at 13.8 ± 5 months of age, they had a significant failure to thrive at diagnosis, among other harmful health consequences.

Conclusion: Our study showed that in our population, the newborn genetic screening program is safe and feasible, it has high acceptability, and it is efficient to identify affected children. VDDR1A health consequences can be prevented by early initiation of treatment. Therefore, screening programs should be available for populations where it is deemed as beneficial from a public health perspective.
 Download the PDF from VitaminDWiki

VitaminDWiki - CYP27B1 category contains

The CYP27B1 gene activates Vitamin D in the Kidney,    Skin,    Lungs,    Brain,   Eyes   Breasts   etc.
CYtochrome P450 family 27 subfamily B member 1    = 25-Hydroxyvitamin D3 1-alpha-hydroxylase

What can be done if have a poor CYP27B1

  • Larger doses of Vitamin D
  • More Bio-available: Gut-friendly form, Topical form, taken with fatty meal, taken with evening meal
  • Additional sources: UV
  • Increase Vitamin D metabolism: additional Magnesium, Omega-3
  • Increase the amount of Vitamin D in the blood that gets to cells: increase activation of VDR

Vitamin D blood test misses CYP27B1 and other genes
in Visio for 2023

VitaminDWiki - Overview of Rickets and vitamin D contains

Rate of rickets is usually < 0.1% of births, unless dark skin or breastfed
Rate of rickets has greatly increased with the drop in vitamin D levels during the past 40 years
400 IU can prevent/treat most rickets Turkey gave vitamin D to EVERY child and eliminated Rickets
A low serum level of vitamin D does not indicate rickets
Sometimes rickets is also associated with a poor vitamin D receptor
Giving enough Vitamin D to the mother PREVENTS Rickets
Rate of rickets in some countries varies from 10% to 70% (typically poor health overall)
Rickets has been more than doubling in many countries
Rickets is strongly associated with severe breathing problems (weak ribs)
Bowed legs is not the primary indication of rickets    (3 other indications of rickets are seen more often)
Some Rickets is due to poor genes - Vitamin D needed lifelong – June 2020
Vitamin D and Rickets consensus took 80 years

Rickets category has 127 items

Created by admin. Last Modification: Monday May 23, 2022 13:48:35 GMT-0000 by admin. (Version 4)

Attached files

ID Name Comment Uploaded Size Downloads
17646 Region in Quebec.png admin 23 May, 2022 58.95 Kb 127
17645 CYP27B1 Rickets_CompressPdf.pdf admin 23 May, 2022 842.14 Kb 130